Varaico: Literature-Extracted Genetic Variants

TANC1

2q24.2 (UCSC)OMIM GTEx

99 papers

Pfam Domains

AAA_lid_TANC1aa 647–742UCSCTANC1-like, AAA+ ATPase lid domain

WHD_TANC1aa 744–898UCSCTANC1-like, winged helix-turn-helix domain

Ank_2aa 909–998UCSCAnkyrin repeats (3 copies)

Ank_2aa 938–1029UCSCAnkyrin repeats (3 copies)

Ank_2aa 980–1075UCSCAnkyrin repeats (3 copies)

Ank_2aa 1045–1142UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1

HGNC Alias Symbols

KIAA1728; ROLSB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033394.3

p.A537T

c.1609G>A

Surrounding Variants

1 paper

NM_033394.3

p.A536V

c.1607C>T

1 paper

NM_033394.3

p.A536T

c.1606G>A

1 paper

NM_033394.3

p.Q534Q

c.1602G>A

1 paper

NM_033394.3

p.H523L

c.1568A>T

1 paper

NM_033394.3

p.V562G

c.1685T>G

1 paper

NM_033394.3

p.L570R

c.1709T>G

1 paper

NM_033394.3

p.E579Splc

c.1736-2A>G

1 paper

NM_033394.3

p.P620S

c.1858C>T

1 paper

NM_033394.3

p.A631V

c.1892C>T

1 paper

NM_033394.3

p.E492delFs

c.1475_1476delAG

1 paper

NM_033394.3

p.S471R

c.1413T>A

1 paper

NM_033394.3

p.S471R

c.1413T>G